congenital bile acid synthesis defect 2 (Q42863601)
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Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins
- CBAS2
- cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2
- BASD2
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
- Bile Acid Synthesis Defect, Congenital, type 2
- congenital bile acid synthesis defect type 2
- congenital bile acid synthesis defect caused by mutation in AKR1D1
- AKR1D1 congenital bile acid synthesis defect
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital bile acid synthesis defect 2 |
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins |
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